Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Cri-du-Chat syndrome
go back to main search page
Accession:DOID:12580 term browser browse the term
Definition:An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
Synonyms:exact_synonym: 5p Deletion Syndromes;   5p Minus Syndrome;   5p Minus Syndromes;   5p Syndrome;   5p deletion syndrome;   5p partial monosomy syndrome;   5p- Syndromes;   Cat Cry Syndrome;   Cat Cry Syndromes;   Chromosome 5 Short Arm Deletion Syndrome;   Chromosome 5p Deletion Syndrome;   Chromosome 5p- Syndrome;   Chromosome 5p- Syndromes;   Cri-du-Chat Syndromes;   Crying Cat Syndrome;   Crying Cat Syndromes;   deletion of short arm of chromosome 5 syndrome
 primary_id: MESH:D003410
 alt_id: OMIM:123450;   RDO:0003524
 xref: GARD:6213;   NCI:C34518
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Cri-du-Chat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      chromosomal deletion syndrome 506
        Cri-du-Chat syndrome 1
          Chromosome 5, Monosomy 5q35 0
          Chromosome 5, Trisomy 5p 0
          Chromosome 5, Trisomy 5pter p13 3 0
          Chromosome 5, Trisomy 5q 0
          Chromosome 5, Uniparental Disomy 0
          Monosomy 5p 0
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          brain disease 7587
            disease of mental health 5531
              developmental disorder of mental health 2718
                specific developmental disorder 1890
                  intellectual disability 1712
                    Cri-du-Chat syndrome 1
                      Chromosome 5, Monosomy 5q35 0
                      Chromosome 5, Trisomy 5p 0
                      Chromosome 5, Trisomy 5pter p13 3 0
                      Chromosome 5, Trisomy 5q 0
                      Chromosome 5, Uniparental Disomy 0
                      Monosomy 5p 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.